Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Stem Cell Transplantation and Cellular Therapy, MSK Kids, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Bone Marrow Transplant. 2021 Jun;56(6):1238-1247. doi: 10.1038/s41409-020-01179-5. Epub 2021 Jan 13.
Hematopoietic stem cell transplantation (HCT) has been increasingly used for patients with inherited metabolic disorders (IMD). Immune mediated cytopenias (IMCs) after HCT, manifesting as hemolytic anemia, thrombocytopenia, and/or neutropenia, are recognized as a significant complication in this patient population, yet our understanding of the incidence, risk factors, and pathophysiology is currently limited. Review of the published literature demonstrates a higher incidence in younger patients who undergo HCT for a nonmalignant disease indication. However, a few reports suggest that the incidence is even higher among those with IMD (incidence ranging from 10 to 56%). This review summarizes the literature, provides an approach to better understanding of the possible etiology of IMCs, and proposes a diagnostic and management plan for patients with IMD who develop single or multi-lineage cytopenias after HCT.
造血干细胞移植（HCT）已越来越多地用于治疗遗传性代谢疾病（IMD）患者。在 HCT 后出现的免疫介导的血细胞减少症（IMC），表现为溶血性贫血、血小板减少症和/或中性粒细胞减少症，被认为是此类患者群体中的一个重大并发症，但我们目前对其发病率、危险因素和病理生理学的了解还很有限。对已发表文献的回顾表明，在因非恶性疾病而接受 HCT 的年轻患者中，IMC 的发病率更高。然而，有少数报告表明，在 IMD 患者中的发病率更高（发病率范围为 10%至 56%）。本综述总结了文献，提供了一种更好地理解 IMC 可能病因的方法，并为接受 HCT 后发生单系或多系血细胞减少症的 IMD 患者提出了诊断和治疗方案。
